A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690428



Internal ID21716749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27875530..27875530hg38UCSC Ensembl
chr6:27843308..27843308hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177294, nssv17231799
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5690428
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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